|Institutional Source||Beutler Lab|
|Gene Name||dynein cytoplasmic 1 heavy chain 1|
|Synonyms||9930018I23Rik, Dnchc1, dynein heavy chain, retrograde transport, Swl, MAP1C, Loa, Dnec1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R1500 (G1)|
|Chromosomal Location||110601452-110666945 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 110636509 bp|
|Amino Acid Change||Glutamic Acid to Lysine at position 2195 (E2195K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000018851 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000018851]|
Microtubule binding domain from mouse cytoplasmic dynein as a fusion with seryl-tRNA synthetase [X-RAY DIFFRACTION]
High affinity dynein microtubule binding domain - tubulin complex [ELECTRON MICROSCOPY]
Low affinity dynein microtubule binding domain - tubulin complex [ELECTRON MICROSCOPY]
Structure of the entire stalk region of the dynein motor domain [X-RAY DIFFRACTION]
|Predicted Effect||probably benign
AA Change: E2195K
PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
AA Change: E2195K
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0645|
|Coding Region Coverage||
|Validation Efficiency||95% (81/85)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in intracellular motility, including retrograde axonal transport, protein sorting, organelle movement, and spindle dynamics. Molecules of conventional cytoplasmic dynein are comprised of 2 heavy chain polypeptides and a number of intermediate and light chains.This gene encodes a member of the cytoplasmic dynein heavy chain family. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for either the Cra1 or Loa ENU mutation exhibit neonatal lethality with reduced anterior horn cell number, abnormal motor neuron innervation, neuronal inclusions, and abnormal axonal transport. Heterozygotes display motor neuron degeneration and muscle spasms. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dync1h1||
(F):5'- CAGAGTGTCTGCGAGACAATGGTG -3'
(R):5'- GACTTAACTCTCGGCCTGGGAAATC -3'
(F):5'- ACAATGGTGCCCAAGCTG -3'
(R):5'- TCGGCCTGGGAAATCCTTAAAG -3'